Linked Data
dbSNP Id:
rs1385567161
gnomAD v2:
7-117119899-A-C
gnomAD v3:
7-117479845-A-C
gnomAD v4:
7-117479845-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479845A>C , CM000669.2:g.117479845A>C | GRCh38 |
| NC_000007.13:g.117119899A>C , CM000669.1:g.117119899A>C | GRCh37 |
| NC_000007.12:g.116907135A>C | NCBI36 |
| NG_016465.4:g.19062A>C , LRG_663:g.19062A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446805.2:c.-191+151A>C | ENSP00000417012.1:n.-191+151A>C | |
| ENST00000673785.1:c.-406+14014A>C | ENSP00000501235.1:n.-406+14014A>C | |
| ENST00000446805.1:c.-191+151A>C | ENSP00000417012.1:n.-191+151A>C | |
| ENST00000546407.1:n.166+4037A>C | ||
| XM_011515751.1:c.143+500A>C | XP_011514053.1:n.143+500A>C | |
| XM_011515752.1:c.143+500A>C | XP_011514054.1:n.143+500A>C | |
| XM_011515753.1:c.-191+151A>C | XP_011514055.1:n.-191+151A>C | |
| XM_011515754.1:c.-519+151A>C | XP_011514056.1:n.-519+151A>C |